Achard Syndrome

Preferred Label : Achard Syndrome;

NCIt definition : A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet.;

Details

Origin ID

C35809;

UMLS CUI

C1332135;

Currated CISMeF NLP mapping
- Achard syndrome [DO Concept]
- Achard syndrome [MeSH concept]
- Achard syndrome [MeSH Supplementary Concept]
- Achard syndrome [OMIM Phenotype]
DO Cross reference
- Achard syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Achard syndrome [MeSH Supplementary Concept]
- Achard syndrome [OMIM Phenotype]
- Achard syndrome [MeSH concept]
- Achard syndrome [DO Concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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